Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.

OBJECTIVE: The aim of this study was to assess the effect of a six-month interval rehabilitation treatment on motor function of children with PMM2-CDG syndrome (#212065 Congenital disorder of glycosylation, Type Ia; CDG1A, OMIM catalogue number). METHODS: The concept 'Auf die Beine' (Center for Prevention and Rehabilitation of the University of Cologne, Germany) combines two short inpatient stays (1 to 2 weeks) with a six-month whole-body vibration (WBV) home-training program. 13 patients with PMM2-CDG syndrome participated in this concept from 2006 until 2015. Assessments at start, six months and 12 months (follow-up): Gross Motor Function Measure (GMFM-66), One-Minute Walk Test (1MWT) and instrumented gait analyses. RESULTS: The GMFM-66 (9 of 13 children) improved by 5.3 (mean) points (SD 3.2) at 12 months (p=0.0039). The 1MWT (6 of 13 children) improved by 19.17 meter (SD 16.51) after 12 months (p=0.0313). Gait analysis (9 of 13 children) measured by pathlength/distance ratio improved by -0.8 (SD 1.9) at 12 months (p=0.0195). CONCLUSION: Patients with PMM2-CDG syndrome benefit from the interval rehabilitation program 'Auf die Beine' including WBV.

Using artificial intelligence-based technologies to detect clinically relevant changes of gross motor function in children with cerebral palsy.

AIM: To compare the 66-item Gross Motor Function Measure (GMFM-66) with the reduced version of the GMFM-66 (rGMFM-66) with respect to the detection of clinically relevant changes in gross motor function in children with cerebral palsy (CP). METHOD: The study was a retrospective single centre analysis of children with CP who participated in a rehabilitation programme. Overall, 1352 pairs of GMFM-66 and rGMFM66 measurements with a time interval of 5 to 7 months were available. To measure clinically relevant changes in gross motor function, the individual effect size (iES) was calculated. RESULTS: The study population consisted of 1352 children (539 females), mean age 6 years 4 months (SD 2 years 4 months). The iES based on the GMFM-66 and the rGMFM-66 showed a significant correlation (r = 0.84, p < 0.001). The analysis of the area under the receiver operating characteristic curve showed an excellent agreement for clinically relevant gross motor improvement (Cohen's d ≥ 0.5; area under the curve = 0.90 [95% confidence interval 0.88-0.92]) or deterioration (Cohen's d ≤ -0.5; area under the curve = 0.95 [95% confidence interval 0.92-0.97]). INTERPRETATION: Performing the rGMFM-66 saves time compared to the full GMFM-66. The rGMFM-66 showed good agreement with the GMFM-66 with respect to the detection of clinically relevant changes in gross motor function in children with CP, so its use in everyday clinical practice seems justifiable. WHAT THIS PAPER ADDS: The reduced version of the 66-item Gross Motor Function Measure (rGMFM-66) detects clinically relevant changes in gross motor function in children with cerebral palsy. The rGMFM-66 correlates highly with the full GMFM-66. The rGMFM-66 can be used in clinical practice when the time schedule is limited.

Reference centiles of bone mineral density, and body composition of lower limbs in children and adolescents for Hologic DXA Discovery model A.

Background: Regional Dual-energy X-ray absorptiometry (DXA) assessments are useful for patients where whole body measurements are not feasible due to positioning difficulties because of anatomic anomalies (e.g. severe scoliosis) and artifacts due to neuroorthopedic hardware. Until now, there is a lack of reference centiles of bone mineral density and body composition of lower limbs for the DXA device Hologic Discovery model A densitometer. The study aimed to generate age-and sex specific reference centiles of bone mineral content (BMC), bone mineral density (BMD), lean body mass (LBM), and fat mass (FM) of the lower limbs of children and adolescents of Hologic DXA system (Discovery model A). Methodology: Data from children and adolescents aged 8-20 years of the National Health and Nutrition Examination Survey (NHANES) of the years 2015-2018 were used to create age-specific and sex-specific reference centiles. Study population was subdivided into three ethnic groups (non-Hispanic Black, non-Hispanic White and Mexican-American). The LMS method was used to calculate the reference centiles. Study population was adjusted concerning the BMI. Results: A total of DXA scans of 769 non-Hispanic Black children (386 females), 937 non-Hispanic White children (447 females) and 692 Mexican-American children (370 females) were used to calculate age-specific and sex-specific reference curves. 881 DXA scans had to be excluded because of extreme BMI values of the study population, leaving 513 non-Hispanic Black (205 females), 346 Mexican-American children (179 females), 658 Non-Hispanic White (282 females) for statistical analysis and creating age-and sex specific reference centiles after BMI adjustment. Conclusions: We presented pediatric reference centiles for regional bone mineral density, bone mineral content, lean body mass and fat mass of the lower limbs which were age-and sex-specific for three ethnic groups (Mexican-American, non-Hispanic Black and non-Hispanic-White). The reference centiles can be used for the Hologic DXA system Discovery model A with the software version 3.2.

Motor Function Improvement in Children with Ataxia Receiving Interval Rehabilitation, Including Vibration-Assisted Hometraining: A Retrospective Study.

BACKGROUND: Physiotherapy, including vibration-assisted therapy, has been proven to be effective for patients with ataxic cerebral palsy. Herewith, we studied the effect of a functional, goal-oriented interval rehabilitation program, including vibration-assisted home-training on the motor function of children with congenital ataxias. PATIENTS: 45 children (mean age 7.7 years, SD 4.70) with ataxia, having received a 6-month home-based side-alternating vibration-assisted therapy combined with intensive, goal-oriented, functional rehabilitation intervals, were included in the study, classified according to the progressive or non-progressive ataxia character. METHOD: Retrospective analysis of the prospectively collected data of the registry of the Cologne rehabilitation program "Auf die Beine". Motor abilities have been assessed prior to the intervention (M0), after 6 months of home-training (M6) as well as in a follow-up 6 months later (M12). We performed a gait analysis, a 1-minute walking test (1-MWT), and the Gross Motor Function Measure (GMFM-66). RESULTS: The GMFM-66 improvement (M6-M0 vs. M12-M6) was statistically significant with median improvement of 2.4 points (non-progressive) and 2.9 points (progressive) respectively, and clinically relevant. The 1-MWT improvement was statistically significant and clinically relevant for non-progressive ataxia. CONCLUSION: The intensive training, including vibration-assisted therapy significantly improved the motor function of children with ataxia. Six months later the skills were preserved in children with progressive ataxia and could be further developed in non-progressive forms.

Zinc-deficiency dermatitis in breast-fed infants.

We report ten infants (mean gestational age: 30 weeks; range: 25 to 40 weeks) with zinc deficiency dermatitis who developed erosive, impetiginized periorificial dermatitis at 10 weeks of age (corresponding to a mean gestational age of 41.4 weeks, with a range of 36-44 weeks), but who were otherwise well. Cutaneous symptoms were initially misdiagnosed as eczema or impetigo in 8/10 (80%) children who received either topical (4/8) and/or systemic (6/8) antibiotics. Topical corticosteroids were applied in 4/10 infants for a mean time of 4 weeks (range: 2 to 5 weeks) before the correct diagnosis was established by decreased serum zinc levels; skin atrophy (telangiectasia, thinning) as a complication of topical steroid treatment (class II steroids) was observed in two infants. All children responded to oral therapy with zinc sulfate or zinc gluconate (1.5-4 mg/kg/d). Skin lesions started to clear within 24 h after the initiation of therapy and had completely cleared in all infants after 14 days of therapy (range: 3-14 days). We conclude that nutritional zinc deficiency is a frequently misdiagnosed problem in thriving, fully breast-fed preterm babies. It is attributable to the decreased zinc content of human milk as compared to cow's milk, and the increased demand of zinc in rapidly thriving preterm infants. It seems advisable to routinely check serum zinc levels in fully breast-fed preterm infants who do not receive regular oral zinc supplementation once they reach a gestational age of 40 weeks.